Val C. Sheffield

Functional impact of global rare copy number variation in autism spectrum disorders

Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei et al. · Nature · 2010 · 2K citations · Full text

Autism Spectrum Disorders, Syndromic Autism, Genetics +4

Identification of a Gene That Causes Primary Open Angle Glaucoma

Edwin M. Stone, John H. Fingert, Wallace L.M. Alward et al. · Science · 1997 · 1.4K citations

A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis

Maxence V. Nachury, Alexander V. Loktev, Qihong Zhang et al. · Cell · 2007 · 1.4K citations

Core Complex, Protein Function, Signal Transduction +11

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.

Val C. Sheffield, David R. Cox, Leonard S. Lerman et al. · Proceedings of the National Academy of Sciences · 1989 · 1.3K citations · Full text

Genetics, Radioactive Probes, Dna Analysis +18

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Lorraine A. Everett, Benjamin Gläser, John C. Beck et al. · Nature Genetics · 1997 · 1.1K citations

Urology, Mendelian Disorder, Genetic Disorder +7